Cytopenia - NOT Fanconi anaemia
Gene: ACKR1
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACKR1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613665 Benign hereditary neutropenia; PMID(s):Created: 8 Feb 2019, 1:43 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613665 Benign hereditary neutropenia
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to ACKR1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Mode of inheritance for gene ACKR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1
Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1
Source NHS GMS was added to ACKR1.
gene: ACKR1 was added gene: ACKR1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: ACKR1 was set to